Publications

Abstract

Listeners cannot recognize highly reduced word forms in isolation, but they can do so when these forms are presented in context (Ernestus, Baayen, & Schreuder, 2002). This suggests that not all possible surface forms of words have equal status in the mental lexicon. The present study shows that the reduced forms are linked to the canonical representations in the mental lexicon, and that these latter representations induce reconstruction processes. Listeners restore suffixes that are partly or completely missing in reduced word forms. A series of phoneme-monitoring experiments reveals the nature of this restoration: the basis for suffix restoration is mainly phonological in nature, but orthography has an influence as well.

Abstract

Drozd's critique of Crain & Thornton's (C&T) (1998) book Investigations in Universal Grammar (IUG) raises many issues concerning theory and experimental design within generative approaches to language acquisition. I focus here on one of the strongest theoretical claims of the Modularity Matching Model (MMM): continuity of processing. For reasons different to Drozd, I argue that the assumption is tenuous. Furthermore, I argue that the focus of the MMM and the methodological prescriptions contained in IUG are too narrow to capture language acquisition.

Abstract

Pauses during continuous speech, particularly those that occur within clauses, are thought to reflect the planning of forthcoming verbal output. We used functional Magnetic Resonance Imaging (fMRI) to examine their neural correlates. Six volunteers were scanned while describing seven Rorschach inkblots, producing 3 min of speech per inkblot. In an event-related design, the level of blood oxygenation level dependent (BOLD) contrast during brief speech pauses (mean duration 1.3 s, SD 0.3 s) during overt speech was contrasted with that during intervening periods of articulation. We then examined activity associated with pauses that occurred within clauses and pauses that occurred between grammatical junctions. Relative to articulation during speech, pauses were associated with activation in the banks of the left superior temporal sulcus (BA 39/22), at the temporoparietal junction. Continuous speech was associated with greater activation bilaterally in the inferior frontal (BA 44/45), middle frontal (BA 8) and anterior cingulate (BA 24) gyri, the middle temporal sulcus (BA 21/22), the occipital cortex and the cerebellum. Left temporal activation was evident during pauses that occurred within clauses but not during pauses at grammatical junctions. In summary, articulation during continuous speech involved frontal, temporal and cerebellar areas, while pausing was associated with activity in the left temporal cortex, especially when this occurred within a clause. The latter finding is consistent with evidence that within-clause pauses are a correlate of speech planning and in particular lexical retrieval.

Abstract

The German Perfekt has two quite different temporal readings, as illustrated by the two possible continuations of the sentence Peter hat gearbeitet in i, ii, respectively: (i) Peter hat gearbeitet und ist müde. Peter has worked and is tired. (ii) Peter hat gearbeitet und wollte nicht gestört werden. Peter has worked and wanted not to be disturbed. The first reading essentially corresponds to the English present perfect; the second can take a temporal adverbial with past time reference ('yesterday at five', 'when the phone rang', and so on), and an English translation would require a past tense ('Peter worked/was working'). This article shows that the Perfekt has a uniform temporal meaning that results systematically from the interaction of its three components-finiteness marking, auxiliary and past participle-and that the two readings are the consequence of a structural ambiguity. This analysis also predicts the properties of other participle constructions, in particular the passive in German.

Abstract

Chinese has a number of particles such as le, guo, zai and zhe that add a particular aspectual value to the verb to which they are attached. There have been many characterisations of this value in the literature. In this paper, we review several existing influential accounts of these particles, including those in Li and Thompson (1981), Smith (1991), and Mangione and Li (1993). We argue that all these characterisations are intuitively plausible, but none of them is precise.We propose that these particles serve to mark which part of the sentence''s descriptive content is asserted, and that their aspectual value is a consequence of this function. We provide a simple and precise definition of the meanings of le, guo, zai and zhe in terms of the relationship between topic time and time of situation, and show the consequences of their interaction with different verb expressions within thisnew framework of interpretation.

Abstract

Nobel's legacy, or the metamorphosis of what is idealistic Ever since the first Nobel prize in literature was awarded to Prudhomme in 1901, the decisions of the Swedish Academy have been subject to criticism. What is surprising in the changing decision policy as well as in its criticism is the fact that Alfred Nobel's original intentions are hardly ever taken into account: the Nobel prize is a philanthropic prize, it is not meant to select and honour the most eminent literary work but the work with maximal benefit to human beings. What is even more surprising is the fact that no one seems to care that the donator's Last Will is regularly broken.

Abstract

In this article, we discuss the implications of the fact that adult second language learners (outside the classroom) universally develop a well-structured, efficient and simple form of language–the Basic Variety (BV). Three questions are asked as to (1) the structural properties of the BV, (2) the status of these properties and (3) why some structural properties of ‘fully fledged’ languages are more complex. First, we characterize the BV in four respects: its lexical repertoire, the principles according to which utterances are structured, and temporality and spatiality expressed. The organizational principles proposed are small in number, and interact. We analyse this interaction, describing how the BV is put to use in various complex verbal tasks, in order to establish both what its communicative potentialities are, and also those discourse contexts where the constraints come into conflict and where the variety breaks down. This latter phenomenon provides a partial answer to the third question,concerning the relative complexity of ‘fully fledged’ languages–they have devices to deal with such cases. As for the second question, it is argued firstly that the empirically established continuity of the adult acquisition process precludes any assignment of the BV to a mode of linguistic expression (e.g., ‘protolanguage’) distinct from that of ‘fully fledged’ languages and, moreover, that the organizational constraints of the BV belong to the core attributes of the human language capacity, whereas a number of complexifications not attested in the BV are less central properties of this capacity. Finally, it is shown that the notion of feature strength, as used in recent versions of Generative Grammar, allows a straightforward characterization of the BV as a special case of an I-language, in the sense of this theory. Under this perspective, the acquisition of an Ilanguage beyond the BV can essentially be described as a change in feature strength.

Abstract

During the last 25 years, second language acquisition (SLA) research hasmade considerable progress, but is still far from proving a solid basis for foreign language teaching, or from a general theory of SLA. In addition, its status within the linguistic disciplines is still very low. I argue this has not much to do with low empirical or theoretical standards in the field—in this regard, SLA research is fully competitive—but with a particular perspective on the acquisition process: SLA researches learners' utterances as deviations from a certain target, instead of genuine manifestations of underlying language capacity; it analyses them in terms of what they are not rather than what they are. For some purposes such a "target deviation perspective" makes sense, but it will not help SLA researchers to substantially and independently contribute to a deeper understanding of the structure and function of the human language faculty. Therefore, these findings will remain of limited interest to other scientists until SLA researchers consider learner varieties a normal, in fact typical, manifestation of this unique human capacity.

Abstract

In various applications of forensic phonetics the question arises as to how far aural-perceptual speaker recognition performance is reliable. Therefore, it is necessary to examine the relationship between speaker recognition results and human perception/production abilities like musicality or speech sensitivity. In this study, performance in a speaker recognition experiment and a speech sensitivity test are correlated. The results show a moderately significant positive correlation between the two tasks. Generally, performance in the speaker recognition task was better than in the speech sensitivity test. Professionals in speech and singing yielded a more homogeneous correlation than non-experts. Training in speech as well as choir-singing seems to have a positive effect on performance in speaker recognition. It may be concluded, firstly, that in cases where the reliability of voice line-up results or the credibility of a testimony have to be considered, the speech sensitivity test could be a useful indicator. Secondly, the speech sensitivity test might be integrated into the canon of possible procedures for the accreditation of forensic phoneticians. Both tests may also be used in combination.

Abstract

This study addresses the supralexical inferential processes underlying wellformedness judgements and latencies for a specic sublexical unit that appears in Dutch compounds, the interfix. Production studies have shown that the selection of interfixes in novel Dutch compounds and the speed of
this selection is primarily determined by the distribution of interfixes in existing compounds that share the left constituent with the target compound, i.e. the ‘‘left constituent family’’. In this paper, we consider the question whether constituent families also affect wellformedness decisions of novel as well as existing Dutch compounds in comprehension. We visually presented compounds containing interfixes that were either in line with the bias of the left constituent family or not. In the case of existing compounds, we also presented variants with replaced interfixes. As in production, the bias of the left constituent family emerged as a crucial predictor for both acceptance rates and response latencies. This result supports the hypothesis that, as in production, constituent families are (co-)activated in comprehension. We argue that this co-activation is part of a supralexical inferential process, and we discuss how our data might be interpreted within sublexical and supralexical theories of morphological processing.

Abstract

This study addresses the possibility that interfixes in multiconstituent nominal compounds in German and Dutch are functional as markers of immediate constituent structure.We report a lexical statistical survey of interfixation in the lexicons of German and Dutch which shows that all interfixes of German and one interfix of Dutch are significantly more likely to appear at the major constituent boundary than expected under chance conditions. A series of experiments provides evidence that speakers of German and Dutch are sensitive to the probabilistic cues to constituent structure provided by the interfixes. Thus, our data provide evidence that probability is part and parcel of grammatical competence.

Abstract

The KE family is a large three-generation pedigree in which half the members are affected with a severe speech and language disorder that is transmitted as an autosomal dominant monogenic trait. In previously published work, we localized the gene responsible (SPCH1) to a 5.6-cM region of 7q31 between D7S2459 and D7S643. In the present study, we have employed bioinformatic analyses to assemble a detailed BAC-/PAC-based sequence map of this interval, containing 152 sequence tagged sites (STSs), 20 known genes, and >7.75 Mb of completed genomic sequence. We screened the affected chromosome 7 from the KE family with 120 of these STSs (average spacing <100 kb), but we did not detect any evidence of a microdeletion. Novel polymorphic markers were generated from the sequence and were used to further localize critical recombination breakpoints in the KE family. This allowed refinement of the SPCH1 interval to a region between new markers 013A and 330B, containing ∼6.1 Mb of completed sequence. In addition, we have studied two unrelated patients with a similar speech and language disorder, who have de novo translocations involving 7q31. Fluorescence in situ hybridization analyses with BACs/PACs from the sequence map localized the t(5;7)(q22;q31.2) breakpoint in the first patient (CS) to a single clone within the newly refined SPCH1 interval. This clone contains the CAGH44 gene, which encodes a brain-expressed protein containing a large polyglutamine stretch. However, we found that the t(2;7)(p23;q31.3) breakpoint in the second patient (BRD) resides within a BAC clone mapping >3.7 Mb distal to this, outside the current SPCH1 critical interval. Finally, we investigated the CAGH44 gene in affected individuals of the KE family, but we found no mutations in the currently known coding sequence. These studies represent further steps toward the isolation of the first gene to be implicated in the development of speech and language.

Abstract

Chronic fatigue syndrome (CFS) is characterized by a debilitating fatigue of unknown aetiology. Patients who suffer from CFS report a variety of physical complaints as well as neuropsychological complaints. Therefore, it is conceivable that the CNS plays a role in the pathophysiology of CFS. The purpose of this study was to investigate neural correlates of CFS, and specifically whether there exists a linkage between disturbances in the motor system and CFS. We measured behavioural performance and cerebral activity using rapid event-related functional MRI in 16 CFS patients and 16 matched healthy controls while they were engaged in a motor imagery task and a control visual imagery task. CFS patients were considerably slower on performance of both tasks, but the increase in reaction time with increasing task load was similar between the groups. Both groups used largely overlapping neural resources. However, during the motor imagery task, CFS patients evoked stronger responses in visually related structures. Furthermore, there was a marked between-groups difference during erroneous performance. In both groups, dorsal anterior cingulate cortex was specifically activated during error trials. Conversely, ventral anterior cingulate cortex was active when healthy controls made an error, but remained inactive when CFS patients made an error. Our results support the notion that CFS may be associated with dysfunctional motor planning. Furthermore, the between-groups differences observed during erroneous performance point to motivational disturbances as a crucial component of CFS.

Abstract

How can one conceive of the neuronal implementation of the processing model we proposed in our target article? In his commentary (Pulvermüller 1999, reprinted here in this issue), Pulvermüller makes various proposals concerning the underlying neural mechanisms and their potential localizations in the brain. These proposals demonstrate the compatibility of our processing model and current neuroscience. We add further evidence on details of localization based on a recent meta-analysis of neuroimaging studies of word production (Indefrey & Levelt 2000). We also express some minor disagreements with respect to Pulvermüller’s interpretation of the “lemma” notion, and concerning his neural modeling of phonological code retrieval. Branigan & Pickering discuss important aspects of syntactic encoding, which was not the topic of the target article. We discuss their well-taken proposal that multiple syntactic frames for a single verb lemma are represented as independent nodes, which can be shared with other verbs, such as accounting for syntactic priming in speech production. We also discuss how, in principle, the alternative multiple-frame-multiplelemma account can be tested empirically. The available evidence does not seem to support that account.

Abstract

During the second half of the 19th century, the psychology of language was invented as a discipline for the sole purpose of explaining the evolution of spoken language. These efforts culminated in Wilhelm Wundt’s monumental Die Sprache of 1900, which outlined the psychological mechanisms involved in producing utterances and considered how these mechanisms could have evolved. Wundt assumes that articulatory movements were originally rather arbitrary concomitants of larger, meaningful expressive bodily gestures. The sounds such articulations happened to produce slowly acquired the meaning of the gesture as a whole, ultimately making the gesture superfluous. Over a century later, gestural theories of language origins still abound. I argue that such theories are unlikely and wasteful, given the biological, neurological and genetic evidence.

Abstract

The order of acquisition of Dutch syllable types by first language learners is analyzed as following from an initial ranking and subsequent rerankings of constraints in an optimality theoretic grammar. Initially, structural constraints are all ranked above faithfulness constraints, leading to core syllable (CV) productions only. Subsequently, faithfulness gradually rises to the highest position in the ranking, allowing more and more marked syllable types to appear in production. Local conjunctions of Structural constraints allow for a more detailed analysis.

Abstract

Preparing words in speech production is normally a fast and accurate process. We generate them two or three per second in fluent conversation; and overtly naming a clear picture of an object can easily be initiated within 600 msec after picture onset. The underlying process, however, is exceedingly complex. The theory reviewed in this target article analyzes this process as staged and feedforward. After a first stage of conceptual preparation, word generation proceeds through lexical selection, morphological and phonological encoding, phonetic encoding, and articulation itself. In addition, the speaker exerts some degree of output control, by monitoring of self-produced internal and overt speech. The core of the theory, ranging from lexical selection to the initiation of phonetic encoding, is captured in a computational model, called WEAVER + +. Both the theory and the computational model have been developed in interaction with reaction time experiments, particularly in picture naming or related word production paradigms, with the aim of accounting. for the real-time processing in normal word production. A comprehensive review of theory, model, and experiments is presented. The model can handle some of the main observations in the domain of speech errors (the major empirical domain for most other theories of lexical access), and the theory opens new ways of approaching the cerebral organization of speech production by way of high-temporal-resolution imaging.

Abstract

The purpose of this study was to relate a psycholinguistic processing model of picture naming to the dynamics of cortical activation during picture naming. The activation was recorded from eight Dutch subjects with a whole-head neuromagnetometer. The processing model, based on extensive naming latency studies, is a stage model. In preparing a picture's name, the speaker performs a chain of specific operations. They are, in this order, computing the visual percept, activating an appropriate lexical concept, selecting the target word from the mental lexicon, phonological encoding, phonetic encoding, and initiation of articulation. The time windows for each of these operations are reasonably well known and could be related to the peak activity of dipole sources in the individual magnetic response patterns. The analyses showed a clear progression over these time windows from early occipital activation, via parietal and temporal to frontal activation. The major specific findings were that (1) a region in the left posterior temporal lobe, agreeing with the location of Wernicke's area, showed prominent activation starting about 200 msec after picture onset and peaking at about 350 msec, (i.e., within the stage of phonological encoding), and (2) a consistent activation was found in the right parietal cortex, peaking at about 230 msec after picture onset, thus preceding and partly overlapping with the left temporal response. An interpretation in terms of the management of visual attention is proposed.

Abstract

Research on spoken word production has been approached from two angles. In one research tradition, the analysis of spontaneous or induced speech errors led to models that can account for speech error distributions. In another tradition, the measurement of picture naming latencies led to chronometric models accounting for distributions of reaction times in word production. Both kinds of models are, however, dealing with the same underlying processes: (1) the speaker’s selection of a word that is semantically and syntactically appropriate; (2) the retrieval of the word’s phonological properties; (3) the rapid syllabification of the word in context; and (4) the preparation of the corresponding articulatory gestures. Models of both traditions explain these processes in terms of activation spreading through a localist, symbolic network. By and large, they share the main levels of representation: conceptual/semantic, syntactic, phonological and phonetic. They differ in various details, such as the amount of cascading and feedback in the network. These research traditions have begun to merge in recent years, leading to highly constructive experimentation. Currently, they are like two similar knives honing each other. A single pair of scissors is in the making.

Abstract

This commentary discusses whether abstract metrical frames are stored. For stress-assigning languages (e.g., Dutch and English), which have a dominant stress pattern, metrical frames are stored only for words that deviate from the default stress pattern. The majority of the words in these languages are produced without retrieving any independent syllabic or metrical frame.

Abstract

In this article, we present an account of developmental data regarding the acquisition of syllable types. The data come from a longitudinal corpus of phonetically transcribed speech of 12 children acquiring Dutch as their first language. A developmental order of acquisition of syllable types was deduced by aligning the syllabified data on a Guttman scale. This order could be analyzed as following from an initial ranking and subsequent rerankings in the grammar of the structural constraints ONSET, NO-CODA, *COMPLEX-O, and *COMPLEX-C; some local conjunctions of these constraints; and a faithfulness constraint FAITH. The syllable type frequencies in the speech surrounding the language learner are also considered. An interesting correlation is found between the frequencies and the order of development of the different syllable types.

Abstract

Recent work on sentence recognition suggests that listeners use their knowledge of the language to directly infer deep structure syntactic relations from surface structure markers. Suffixes may be such clues, especially in agglutinative languages. A cross-language (Dutch-Finnish) experiment is reported, designed to investigate whether the suffix structure of Finnish words (as opposed to suffixless Dutch words) can facilitate prompted recall of sentences in case these suffixes differentiate between possible deep structures. The experiment, in which 80 subjects recall sentences at the occasion of prompt words, gives only slight confirmatory evidence. Meanwhile, another prompted recall effect (Blumenthal's) could not be replicated.

Abstract

The present paper studies how, in deictic expressions, the temporal interdependency of speech and gesture is realized in the course of motor planning and execution. Two theoretical positions were compared. On the “interactive” view the temporal parameters of speech and gesture are claimed to be the result of feedback between the two systems throughout the phases of motor planning and execution. The alternative “ballistic” view, however, predicts that the two systems are independent during the phase of motor execution, the temporal parameters having been preestablished in the planning phase. In four experiments subjects were requested to indicate which of an array of referent lights was momentarily illuminated. This was done by pointing to the light and/or by using a deictic expression (this/that light). The temporal and spatial course of the pointing movement was automatically registered by means of a Selspot opto-electronic system. By analyzing the moments of gesture initiation and apex, and relating them to the moments of speech onset, it was possible to show that, for deictic expressions, the ballistic view is very nearly correct.

Abstract

The core issue in the 19-century sources of psycholinguistics was the question, "Where does language come from?'' This genetic perspective unified the study of the ontogenesis, the phylogenesis, the microgenesis, and to some extent the neurogenesis of language. This paper makes the point that this original perspective is still a valid and attractive one. It is exemplified by a discussion of the genesis of spoken words.

Abstract

It is quite normal for us to produce one or two million word tokens every year. Speaking is a dear occupation and producing words is at the core of it. Still, producing even a single word is a highly complex affair. Recently, Levelt, Roelofs, and Meyer (1999) reviewed their theory of lexical access in speech production, which dissects the word-producing mechanism as a staged application of various dedicated operations. The present paper begins by presenting a bird eye's view of this mechanism. We then square the complexity by asking how speakers control multiple access in generating simple utterances such as a table and a chair. In particular, we address two issues. The first one concerns dependency: Do temporally contiguous access procedures interact in any way, or do they run in modular fashion? The second issue concerns temporal alignment: How much temporal overlap of processing does the system tolerate in accessing multiple content words, such as table and chair? Results from picture-word interference and eye tracking experiments provide evidence for restricted cases of dependency as well as for constraints on the temporal alignment of access procedures.

Abstract

Comment on Sperber and Wilson

Abstract

This article explores the relation between language and cognition by examining the case of "absolute" (cardinal direction) spatial description in the Australian aboriginal language Guugu Yimithirr. This kind of spatial description is incongruent with the "relative" (e.g., left/right/front/back) spatial description familiar in European languages. Building on Haviland's 1993 analysis of Guugu Yimithirr directionals in speech and gesture, a series of informal experiments were developed. It is shown that Guugu Yimithirr speakers predominantly code for nonverbal memory in "absolute" concepts congruent with their language, while a comparative sample of Dutch speakers do so in "relative" concepts. Much anecdotal evidence also supports this. The conclusion is that Whorfian effects may in fact be demonstrable in the spatial domain.

Abstract

This review describes some recent, unexpected findings concerning variation in spatial language across cultures, and places them in the context of the general anthropology of space on the one hand, and theories of spatial cognition in the cognitive sciences on the other. There has been much concern with the symbolism of space in anthropological writings, but little on concepts of space in practical activities. This neglect of everyday spatial notions may be due to unwitting ethnocentrism, the assumption in Western thinking generally that notions of space are universally of a single kind. Recent work shows that systems of spatial reckoning and description can in fact be quite divergent across cultures, linguistic differences correlating with distinct cognitive tendencies. This unexpected cultural variation raises interesting questions concerning the relation between cultural and linguistic concepts and the biological foundations of cognition. It argues for more sophisticated models relating culture and cognition than we currently have available.

Abstract

Philosophers, psychologists, and linguists have argued that spatial conception is pivotal to cognition in general, providing a general, egocentric, and universal framework for cognition as well as metaphors for conceptualizing many other domains. But in an aboriginal community in Northern Queensland, a system of cardinal directions informs not only language, but also memory for arbitrary spatial arrays and directions. This work suggests that fundamental cognitive parameters, like the system of coding spatial locations, can vary cross-culturally, in line with the language spoken by a community. This opens up the prospect of a fruitful dialogue between anthropology and the cognitive sciences on the complex interaction between cultural and universal factors in the constitution of mind.

Abstract

This paper is one in a series that develops a pragmatic framework in loose confederation with Jay Atlas and Larry Horn: thus they may or may not be responsible for the ideas contained herein. Jay Atlas provided many comments which I have utilized or perverted as the case may be. The Australian data to which this framework is applied was collected with the financial and personal assistance of many people and agencies acknowledged separately below; but I must single out for special thanks John Haviland, who recommended the study of Guugu Yimidhirr anaphora to me and upon whose grammatical work on Guugu Yimidhirr this paper is but a minor (and perhaps flawed) elaboration. A grant from the British Academy allowed me to visit Haviland in September 1986 to discuss many aspects of Guugu Yimidhirr with him, and I am most grateful to the Academy for funding this trip and to Haviland for generously making available his time, his texts (from which I have drawn many examples, not always with specific acknowledgement) and most especially his expertise. Where I have diverged from his opinion I may well learn to regret it. I must also thank Nigel Vincent for putting me in touch with a number of recent relevant developments in syntax (only some of which I have been able to address) and for suggestions for numerous improvements. In addition, I have benefited immensely for comments on a distinct but related paper (Levinson, 1987) kindly provided by Jay Atlas, John Haviland, John Heritage, Phil Johnson-Laird, John Lyons, Tanya Reinhart, Emanuel Schegloff and an anonymous referee; and from comments on this paper by participants in the Cambridge Linguistics Department seminar where it was first presented (especial thanks to John Lyons and Huang Yan for further comments, and Mary Smith for a counter-example). Despite all this help, there are sure to be errors of data and analysis that I have persisted in. Aid in gathering the Australian data is acknowledged separately below.

Abstract

The theory of basic color terms was a crucial factor in the demise of linguistic relativity. The theory is now once again under scrutiny and fundamental revision. This article details a case study that undermines one of the central claims of the classical theory, namely that languages universally treat color as a unitary domain, to be exhaustively named. Taken together with other cases, the study suggests that a number of languages have only an incipient color terminology, raising doubts about the linguistic universality of such terminology.

Abstract

We propose that the choice between the auxiliaries hebben 'have' and zijn 'be' in Dutch is determined by a particular semantic feature of verbs. In particular we propose a feature of meaning [IEPS] for 'inferable eventual position or state' that characterizes whether the action denoted by the verb allows us to determine the eventual position or state of the verb's highest argument. It is argued that only verbs which exhibit the feature [+IEPS] or which obtain the feature compositionally in the syntax select zijn as their auxiliary. Our analysis is then compared to a number of other analyses of auxiliary selection in Dutch.

Abstract

Infants point for various motives. Classically, one such motive is declarative, to share attention and interest with adults to events. Recently, some researchers have questioned whether infants have this motivation. In the current study, an adult reacted to 12-month-olds' pointing in different ways, and infants' responses were observed. Results showed that when the adult shared attention and interest (i.e. alternated gaze and emoted), infants pointed more frequently across trials and tended to prolong each point – presumably to prolong the satisfying interaction. However, when the adult emoted to the infant alone or looked only to the event, infants pointed less across trials and repeated points more within trials – presumably in an attempt to establish joint attention. Results suggest that 12-month-olds point declaratively and understand that others have psychological states that can be directed and shared.

Abstract

Mutations of the renal-specific chloride channel (CLCN5) gene, which is located on chromosome Xp11.22, are associated with hypercalciuric nephrolithiasis (kidney stones) in the Northern European and Japanese populations. CLCN5 encodes a 746 amino acid channel (CLC-5) that has approximately 12 transmembrane domains, and heterologous expression of wild-type CLC-5 in Xenopus oocytes has yielded outwardly rectifying chloride currents that were markedly reduced or abolished by these mutations. In order to assess further the structural and functional relationships of this recently cloned chloride channel, additional CLCN5 mutations have been identified in five unrelated families with this disorder. Three of these mutations were missense (G57V, G512R and E527D), one was a nonsense (R648Stop) and one was an insertion (30:H insertion). In addition, two of the mutations (30:H insertion and E527D) were demonstrated to be de novo, and the G57V and E527D mutations were identified in families of Afro-American and Indian origin, respectively. The G57V and 30:H insertion mutations represent the first CLCN5 mutations to be identified in the N-terminus region, and the R648Stop mutation, which has been observed previously in an unrelated family, suggests that this codon may be particularly prone to mutations. Heterologous expression of the mutations resulted in a marked reduction or abolition of the chloride currents, thereby establishing their functional importance. These results help to elucidate further the structure-function relationships of this renal chloride channel.

Abstract

Kidney stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients and are most commonly associated with hypercalciuria. Three disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphataemic rickets (XLRH)) have been mapped to Xp11.22 (refs 5-7). A microdeletion in one Dent's disease kindred allowed the identification of a candidate gene, CLCN5 (refs 8,9) which encodes a putative renal chloride channel. Here we report the investigation of 11 kindreds with these renal tubular disorders for CLCN5 abnormalities; this identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one microdeletion encompassing the entire gene. Heterologous expression of wild-type CLCN5 in Xenopus oocytes yielded outwardly rectifying chloride currents, which were either abolished or markedly reduced by the mutations. The common aetiology for Dent's disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones

Abstract

Attention-deficit/hyperactivity disorder (ADHD) and reading disability (RD) are common highly heritable disorders of childhood, which frequently co-occur. Data from twin and family studies suggest that this overlap is, in part, due to shared genetic underpinnings. Here, we report the first genome-wide linkage analysis of measures of reading ability in children with ADHD, using a sample of 233 affected sibling pairs who previously participated in a genome-wide scan for susceptibility loci in ADHD. Quantitative trait locus (QTL) analysis of a composite reading factor defined from three highly correlated reading measures identified suggestive linkage (multipoint maximum lod score, MLS>2.2) in four chromosomal regions. Two regions (16p, 17q) overlap those implicated by our previous genome-wide scan for ADHD in the same sample: one region (2p) provides replication for an RD susceptibility locus, and one region (10q) falls approximately 35 cM from a modestly highlighted region in an independent genome-wide scan of siblings with ADHD. Investigation of an individual reading measure of Reading Recognition supported linkage to putative RD susceptibility regions on chromosome 8p (MLS=2.4) and 15q (MLS=1.38). Thus, the data support the existence of genetic factors that have pleiotropic effects on ADHD and reading ability--as suggested by shared linkages on 16p, 17q and possibly 10q--but also those that appear to be unique to reading--as indicated by linkages on 2p, 8p and 15q that coincide with those previously found in studies of RD. Our study also suggests that reading measures may represent useful phenotypes in ADHD research. The eventual identification of genes underlying these unique and shared linkages may increase our understanding of ADHD, RD and the relationship between the two.

Abstract

Nyelv és/vagy evolúció: Lehetséges-e a nyelv evolúciós magyarázata? [Derek Bickerton: Nyelv és evolúció] (Magyari Lilla); Történelmi olvasókönyv az agyról [Charles G. Gross: Agy, látás, emlékezet. Mesék az idegtudomány történetéből] (Garab Edit Anna); Művészet vagy tudomány [Margitay Tihamér: Az érvelés mestersége. Érvelések elemzése, értékelése és kritikája] (Zemplén Gábor); Tényleg ésszerűek vagyunk? [Herbert Simon: Az ésszerűség szerepe az emberi életben] (Kardos Péter); Nemi különbségek a megismerésben [Doreen Kimura: Női agy, férfi agy]. (Hahn Noémi);